- Human pathology

Home > E. Pathology by systems > Nervous system > hypomyelinating leukodystrophies

hypomyelinating leukodystrophies

Tuesday 15 June 2004

Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation.

The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1.

Homozygous mutations in GJA12 encoding connexin 47 were found in patients with autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD).


- X-linked Pelizaeus-Merzbacher disease (PLP1 mutations)
- autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD) (GJA12)


- Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy. Am J Hum Genet. 2008 Jun 18. PMID: 18571143